ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for USP54

Gene summary

Gene information	Gene symbol	USP54
	Gene ID	159195
	Gene name	ubiquitin specific peptidase 54
	Synonyms	C10orf29\|bA137L10.3\|bA137L10.4
	Cytomap	10q22.2
	Type of gene	protein-coding
	Description	inactive ubiquitin carboxyl-terminal hydrolase 54inactive ubiquitin-specific peptidase 54ubiquitin specific protease 54ubiquitin specific proteinase 54
	Modification date	20180519
	UniProtAcc	Q70EL1
	Context	PubMed: USP54 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID)

Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Gene

GO ID

GO term

PubMed ID

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Exon skipping events across known transcript of Ensembl for USP54 from UCSC genome browser

Skipped exons in TCGA and GTEx based on Ensembl gene isoform structure.
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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Gene isoform structures and expression levels for USP54

Expression levels of gene isoforms across TCGA.

Expression levels of gene isoforms across GTEx.

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Exon skipping events with PSIs in TCGA for USP54

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_51082	10	75258135:75258946:75260412:75260596:75264607:75264748	75260412:75260596	ENSG00000166348.13	ENST00000466048.2,ENST00000497106.1,ENST00000339859.4,ENST00000408019.1,ENST00000428547.1
exon_skip_51084	10	75258135:75258946:75260412:75260596:75265065:75265184	75260412:75260596	ENSG00000166348.13	ENST00000424265.1,ENST00000418501.1,ENST00000394811.2,ENST00000422491.2
exon_skip_51094	10	75260412:75260596:75264607:75264748:75265065:75265184	75264607:75264748	ENSG00000166348.13	ENST00000466048.2,ENST00000339859.4,ENST00000408019.1,ENST00000428547.1
exon_skip_51095	10	75260412:75260596:75264607:75264748:75265080:75265184	75264607:75264748	ENSG00000166348.13	ENST00000497106.1
exon_skip_51100	10	75260412:75260596:75265065:75265184:75276132:75277505	75265065:75265184	ENSG00000166348.13	ENST00000424265.1,ENST00000418501.1,ENST00000394811.2,ENST00000422491.2
exon_skip_51123	10	75277271:75277505:75279554:75279750:75280665:75280785	75279554:75279750	ENSG00000166348.13	ENST00000339859.4,ENST00000394811.2,ENST00000408019.1,ENST00000428547.1
exon_skip_51124	10	75277271:75277505:75279554:75279750:75283340:75283508	75279554:75279750	ENSG00000166348.13	ENST00000422491.2
exon_skip_51125	10	75277271:75277505:75280665:75280785:75283340:75283508	75280665:75280785	ENSG00000166348.13	ENST00000466048.2,ENST00000424265.1
exon_skip_51127	10	75279554:75279750:75280665:75280785:75283340:75283432	75280665:75280785	ENSG00000166348.13	ENST00000498143.1,ENST00000339859.4,ENST00000394811.2,ENST00000408019.1,ENST00000428547.1
exon_skip_51129	10	75280665:75280785:75283340:75283508:75286404:75286538	75283340:75283508	ENSG00000166348.13	ENST00000466048.2,ENST00000498143.1,ENST00000424265.1,ENST00000339859.4,ENST00000394811.2,ENST00000408019.1,ENST00000428547.1
exon_skip_51130	10	75283340:75283508:75286404:75286538:75289437:75289669	75286404:75286538	ENSG00000166348.13	ENST00000466048.2,ENST00000498143.1,ENST00000424265.1,ENST00000497106.1,ENST00000339859.4,ENST00000418501.1,ENST00000394811.2,ENST00000408019.1,ENST00000428547.1
exon_skip_51131	10	75286404:75286538:75289437:75289669:75289900:75290169	75289437:75289669	ENSG00000166348.13	ENST00000466048.2,ENST00000498143.1,ENST00000424265.1,ENST00000497106.1,ENST00000339859.4,ENST00000418501.1,ENST00000394811.2,ENST00000408019.1,ENST00000428547.1
exon_skip_51132	10	75290217:75290281:75290461:75290593:75294357:75294528	75290461:75290593	ENSG00000166348.13	ENST00000319786.7,ENST00000498143.1,ENST00000424265.1,ENST00000339859.4,ENST00000394811.2,ENST00000408019.1,ENST00000428547.1
exon_skip_51134	10	75289900:75290281:75290461:75290593:75296026:75296195	75290461:75290593	ENSG00000166348.13	ENST00000497106.1
exon_skip_51139	10	75290461:75290593:75294357:75294528:75296026:75296195	75294357:75294528	ENSG00000166348.13	ENST00000319786.7,ENST00000498143.1,ENST00000424265.1,ENST00000339859.4,ENST00000394811.2,ENST00000408019.1,ENST00000428547.1
exon_skip_51141	10	75290461:75290593:75296026:75296195:75299201:75299351	75296026:75296195	ENSG00000166348.13	ENST00000497106.1
exon_skip_51145	10	75296026:75296195:75299201:75299351:75301132:75301279	75299201:75299351	ENSG00000166348.13	ENST00000319786.7,ENST00000498143.1,ENST00000461520.1,ENST00000424265.1,ENST00000497106.1,ENST00000339859.4,ENST00000394811.2,ENST00000408019.1
exon_skip_51147	10	75299295:75299351:75301132:75301279:75301390:75301460	75301132:75301279	ENSG00000166348.13	ENST00000319786.7,ENST00000498143.1,ENST00000461520.1,ENST00000424265.1,ENST00000497106.1,ENST00000339859.4,ENST00000394811.2,ENST00000408019.1
exon_skip_51160	10	75301390:75301496:75302560:75302643:75302775:75302889	75302560:75302643	ENSG00000166348.13	ENST00000319786.7,ENST00000498143.1,ENST00000461520.1,ENST00000497106.1,ENST00000339859.4,ENST00000394811.2,ENST00000408019.1
exon_skip_51163	10	75302803:75302889:75305295:75305430:75331178:75331271	75305295:75305430	ENSG00000166348.13	ENST00000319786.7,ENST00000413442.1,ENST00000498143.1,ENST00000461520.1,ENST00000339859.4,ENST00000394811.2,ENST00000408019.1
exon_skip_51167	10	75331178:75331271:75335269:75335433:75351035:75351096	75335269:75335433	ENSG00000166348.13	ENST00000413442.1,ENST00000451492.1
exon_skip_51171	10	75335269:75335433:75335555:75336119:75351035:75351096	75335555:75336119	ENSG00000166348.13	ENST00000319786.7
exon_skip_51199	10	75335962:75336119:75366126:75366226:75385694:75385711	75366126:75366226	ENSG00000166348.13	ENST00000433394.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for USP54

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_51082	10	75258135:75258946:75260412:75260596:75264607:75264748	75260412:75260596	ENSG00000166348.13	ENST00000466048.2,ENST00000339859.4,ENST00000408019.1,ENST00000428547.1,ENST00000497106.1
exon_skip_51084	10	75258135:75258946:75260412:75260596:75265065:75265184	75260412:75260596	ENSG00000166348.13	ENST00000418501.1,ENST00000424265.1,ENST00000394811.2,ENST00000422491.2
exon_skip_51094	10	75260412:75260596:75264607:75264748:75265065:75265184	75264607:75264748	ENSG00000166348.13	ENST00000466048.2,ENST00000339859.4,ENST00000408019.1,ENST00000428547.1
exon_skip_51095	10	75260412:75260596:75264607:75264748:75265080:75265184	75264607:75264748	ENSG00000166348.13	ENST00000497106.1
exon_skip_51100	10	75260412:75260596:75265065:75265184:75276132:75277505	75265065:75265184	ENSG00000166348.13	ENST00000418501.1,ENST00000424265.1,ENST00000394811.2,ENST00000422491.2
exon_skip_51123	10	75277271:75277505:75279554:75279750:75280665:75280785	75279554:75279750	ENSG00000166348.13	ENST00000339859.4,ENST00000408019.1,ENST00000428547.1,ENST00000394811.2
exon_skip_51124	10	75277271:75277505:75279554:75279750:75283340:75283508	75279554:75279750	ENSG00000166348.13	ENST00000422491.2
exon_skip_51125	10	75277271:75277505:75280665:75280785:75283340:75283508	75280665:75280785	ENSG00000166348.13	ENST00000466048.2,ENST00000424265.1
exon_skip_51127	10	75279554:75279750:75280665:75280785:75283340:75283432	75280665:75280785	ENSG00000166348.13	ENST00000339859.4,ENST00000408019.1,ENST00000428547.1,ENST00000394811.2,ENST00000498143.1
exon_skip_51129	10	75280665:75280785:75283340:75283508:75286404:75286538	75283340:75283508	ENSG00000166348.13	ENST00000466048.2,ENST00000424265.1,ENST00000339859.4,ENST00000408019.1,ENST00000428547.1,ENST00000394811.2,ENST00000498143.1
exon_skip_51130	10	75283340:75283508:75286404:75286538:75289437:75289669	75286404:75286538	ENSG00000166348.13	ENST00000418501.1,ENST00000466048.2,ENST00000424265.1,ENST00000339859.4,ENST00000408019.1,ENST00000428547.1,ENST00000394811.2,ENST00000497106.1,ENST00000498143.1
exon_skip_51131	10	75286404:75286538:75289437:75289669:75289900:75290169	75289437:75289669	ENSG00000166348.13	ENST00000418501.1,ENST00000466048.2,ENST00000424265.1,ENST00000339859.4,ENST00000408019.1,ENST00000428547.1,ENST00000394811.2,ENST00000497106.1,ENST00000498143.1
exon_skip_51132	10	75290217:75290281:75290461:75290593:75294357:75294528	75290461:75290593	ENSG00000166348.13	ENST00000424265.1,ENST00000339859.4,ENST00000408019.1,ENST00000428547.1,ENST00000394811.2,ENST00000498143.1,ENST00000319786.7
exon_skip_51134	10	75289900:75290281:75290461:75290593:75296026:75296195	75290461:75290593	ENSG00000166348.13	ENST00000497106.1
exon_skip_51139	10	75290461:75290593:75294357:75294528:75296026:75296195	75294357:75294528	ENSG00000166348.13	ENST00000424265.1,ENST00000339859.4,ENST00000408019.1,ENST00000428547.1,ENST00000394811.2,ENST00000498143.1,ENST00000319786.7
exon_skip_51141	10	75290461:75290593:75296026:75296195:75299201:75299351	75296026:75296195	ENSG00000166348.13	ENST00000497106.1
exon_skip_51145	10	75296026:75296195:75299201:75299351:75301132:75301279	75299201:75299351	ENSG00000166348.13	ENST00000424265.1,ENST00000339859.4,ENST00000408019.1,ENST00000394811.2,ENST00000497106.1,ENST00000498143.1,ENST00000319786.7,ENST00000461520.1
exon_skip_51147	10	75299295:75299351:75301132:75301279:75301390:75301460	75301132:75301279	ENSG00000166348.13	ENST00000424265.1,ENST00000339859.4,ENST00000408019.1,ENST00000394811.2,ENST00000497106.1,ENST00000498143.1,ENST00000319786.7,ENST00000461520.1
exon_skip_51160	10	75301390:75301496:75302560:75302643:75302775:75302889	75302560:75302643	ENSG00000166348.13	ENST00000339859.4,ENST00000408019.1,ENST00000394811.2,ENST00000497106.1,ENST00000498143.1,ENST00000319786.7,ENST00000461520.1
exon_skip_51163	10	75302803:75302889:75305295:75305430:75331178:75331271	75305295:75305430	ENSG00000166348.13	ENST00000339859.4,ENST00000408019.1,ENST00000394811.2,ENST00000498143.1,ENST00000319786.7,ENST00000461520.1,ENST00000413442.1
exon_skip_51167	10	75331178:75331271:75335269:75335433:75351035:75351096	75335269:75335433	ENSG00000166348.13	ENST00000451492.1,ENST00000413442.1
exon_skip_51171	10	75335269:75335433:75335555:75336119:75351035:75351096	75335555:75336119	ENSG00000166348.13	ENST00000319786.7
exon_skip_51199	10	75335962:75336119:75366126:75366226:75385694:75385711	75366126:75366226	ENSG00000166348.13	ENST00000433394.1

PSI values of skipped exons in GTEx.

* Skipped exon sequences.

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Open reading frame (ORF) annotation in the exon skipping event for USP54

Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms.

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000339859	75260412	75260596	Frame-shift
ENST00000339859	75279554	75279750	Frame-shift
ENST00000339859	75286404	75286538	Frame-shift
ENST00000339859	75289437	75289669	Frame-shift
ENST00000339859	75302560	75302643	Frame-shift
ENST00000339859	75264607	75264748	In-frame
ENST00000339859	75280665	75280785	In-frame
ENST00000339859	75283340	75283508	In-frame
ENST00000339859	75290461	75290593	In-frame
ENST00000339859	75294357	75294528	In-frame
ENST00000339859	75299201	75299351	In-frame
ENST00000339859	75301132	75301279	In-frame
ENST00000339859	75305295	75305430	In-frame

Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms.

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000339859	75260412	75260596	Frame-shift
ENST00000339859	75279554	75279750	Frame-shift
ENST00000339859	75286404	75286538	Frame-shift
ENST00000339859	75289437	75289669	Frame-shift
ENST00000339859	75302560	75302643	Frame-shift
ENST00000339859	75264607	75264748	In-frame
ENST00000339859	75280665	75280785	In-frame
ENST00000339859	75283340	75283508	In-frame
ENST00000339859	75290461	75290593	In-frame
ENST00000339859	75294357	75294528	In-frame
ENST00000339859	75299201	75299351	In-frame
ENST00000339859	75301132	75301279	In-frame
ENST00000339859	75305295	75305430	In-frame

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Infer the effects of exon skipping event on protein functional features for USP54

Exon skipping at the protein sequence level and followed lost functional features.
* Click on the image to enlarge it in a new window.

Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases.

ENST	Length of mRNA	Length of AA seq.	Genomic start	Genomic end	mRNA start	mRNA end	AA start	AA end
ENST00000339859	6264	1684	75305295	75305430	342	476	80	125
ENST00000339859	6264	1684	75301132	75301279	780	926	226	275
ENST00000339859	6264	1684	75299201	75299351	927	1076	275	325
ENST00000339859	6264	1684	75294357	75294528	1246	1416	381	438
ENST00000339859	6264	1684	75290461	75290593	1417	1548	438	482
ENST00000339859	6264	1684	75283340	75283508	2296	2463	731	787
ENST00000339859	6264	1684	75280665	75280785	2464	2583	787	827
ENST00000339859	6264	1684	75264607	75264748	4272	4412	1390	1437

Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases.

ENST	Length of mRNA	Length of AA seq.	Genomic start	Genomic end	mRNA start	mRNA end	AA start	AA end
ENST00000339859	6264	1684	75305295	75305430	342	476	80	125
ENST00000339859	6264	1684	75301132	75301279	780	926	226	275
ENST00000339859	6264	1684	75299201	75299351	927	1076	275	325
ENST00000339859	6264	1684	75294357	75294528	1246	1416	381	438
ENST00000339859	6264	1684	75290461	75290593	1417	1548	438	482
ENST00000339859	6264	1684	75283340	75283508	2296	2463	731	787
ENST00000339859	6264	1684	75280665	75280785	2464	2583	787	827
ENST00000339859	6264	1684	75264607	75264748	4272	4412	1390	1437

Lost protein functional features of individual exon skipping events in TCGA.

UniProt acc.

Start of exon skipping (AA)

End of exon skipping (AA)

Protein feature start (AA)

Protein feature end (AA)

Category of protein feature

Description of feature

Lost protein functional features of individual exon skipping events in GTEx.

UniProt acc.

Start of exon skipping (AA)

End of exon skipping (AA)

Protein feature start (AA)

Protein feature end (AA)

Category of protein feature

Description of feature

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SNVs in the skipped exons for USP54

- Lollipop plot for presenting exon skipping associated SNVs.
* Click on the image to enlarge it in a new window.

- Differential PSIs between mutated versus non-mutated samples.

- Non-synonymous mutations located in the skipped exons in TCGA.

Cancer type	Sample	ESID	Skipped exon start	Skipped exon end	Mutation start	Mutation end	Mutation type	Reference seq	Mutation seq	AAchange
LIHC	TCGA-DD-A3A1-01	exon_skip_51095 exon_skip_51094	75264608	75264748	75264616	75264616	Frame_Shift_Del	G	-	p.H1435fs
LIHC	TCGA-DD-A1EG-01	exon_skip_51095 exon_skip_51094	75264608	75264748	75264684	75264684	Frame_Shift_Del	A	-	p.L1412fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_51095 exon_skip_51094	75264608	75264748	75264684	75264684	Frame_Shift_Del	A	-	p.L1412fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_51124 exon_skip_51123	75279555	75279750	75279575	75279575	Frame_Shift_Del	C	-	p.G886fs
COAD	TCGA-AD-6889-01	exon_skip_51125 exon_skip_51127	75280666	75280785	75280699	75280700	Frame_Shift_Del	CA	-	p.817_817del
LIHC	TCGA-DD-AAW1-01	exon_skip_51129	75283341	75283508	75283430	75283448	Frame_Shift_Del	CGAAGTTCCTGTTCCTGCG	-	p.752_758del
LIHC	TCGA-BC-A3KG-01	exon_skip_51131	75289438	75289669	75289662	75289662	Frame_Shift_Del	T	-	p.E612fs
LIHC	TCGA-DD-AACB-01	exon_skip_51141	75296027	75296195	75296083	75296083	Frame_Shift_Del	G	-	p.P363fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_51163	75305296	75305430	75305395	75305395	Frame_Shift_Del	T	-	p.K92fs
STAD	TCGA-HU-A4GX-01	exon_skip_51167	75335270	75335433	75335385	75335385	Frame_Shift_Del	C	-	p.G11fs
LIHC	TCGA-BC-A112-01	exon_skip_51095 exon_skip_51094	75264608	75264748	75264711	75264712	Frame_Shift_Ins	-	C	p.G1403fs
UCEC	TCGA-AP-A0LP-01	exon_skip_51141	75296027	75296195	75296150	75296151	Frame_Shift_Ins	-	C	p.G340fs
HNSC	TCGA-QK-A6VB-01	exon_skip_51145	75299202	75299351	75299343	75299344	Frame_Shift_Ins	-	A	p.*278fs
BLCA	TCGA-G2-AA3B-01	exon_skip_51124 exon_skip_51123	75279555	75279750	75279565	75279565	Nonsense_Mutation	G	A	p.Q890*
LUSC	TCGA-22-5471-01	exon_skip_51124 exon_skip_51123	75279555	75279750	75279616	75279616	Nonsense_Mutation	G	A	p.Q873*
THYM	TCGA-X7-A8M0-01	exon_skip_51124 exon_skip_51123	75279555	75279750	75279649	75279649	Nonsense_Mutation	G	A	p.Q862X
BLCA	TCGA-DK-A6AW-01	exon_skip_51131	75289438	75289669	75289664	75289664	Nonsense_Mutation	C	A	p.E612*
SKCM	TCGA-YG-AA3O-06	exon_skip_51160	75302561	75302643	75302595	75302595	Nonsense_Mutation	G	A	p.Q180*

- Depth of coverage in the three exons composing exon skipping event

Depth of coverage in three exons

Mutation description

- Non-synonymous mutations located in the skipped exons in CCLE.

Sample	Skipped exon start	Skipped exon end	Mutation start	Mutation end	Mutation type	Reference seq	Mutation seq	AAchange
TT_OESOPHAGUS	75335270	75335433	75335330	75335334	Frame_Shift_Del	GGGGG	-	p.AP28fs
BICR18_UPPER_AERODIGESTIVE_TRACT	75260413	75260596	75260425	75260425	Missense_Mutation	T	A	p.N1495Y
ES7_BONE	75260413	75260596	75260429	75260429	Missense_Mutation	C	A	p.E1493D
SW756_CERVIX	75260413	75260596	75260431	75260431	Missense_Mutation	C	T	p.E1493K
BICR18_UPPER_AERODIGESTIVE_TRACT	75260413	75260596	75260442	75260442	Missense_Mutation	G	C	p.T1489S
JHUEM7_ENDOMETRIUM	75260413	75260596	75260509	75260509	Missense_Mutation	A	G	p.F1467L
NCIH2347_LUNG	75260413	75260596	75260541	75260541	Missense_Mutation	G	C	p.S1456C
SNU1040_LARGE_INTESTINE	75260413	75260596	75260556	75260556	Missense_Mutation	C	T	p.R1451H
DU145_PROSTATE	75264608	75264748	75264664	75264664	Missense_Mutation	G	T	p.L1419I
MC1010_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	75264608	75264748	75264669	75264669	Missense_Mutation	C	T	p.R1417H
JHUEM7_ENDOMETRIUM	75264608	75264748	75264689	75264689	Missense_Mutation	C	A	p.E1410D
AN3CA_ENDOMETRIUM	75264608	75264748	75264709	75264709	Missense_Mutation	C	T	p.D1404N
LS411N_LARGE_INTESTINE	75265066	75265184	75265080	75265080	Missense_Mutation	C	T	p.V1386M
SNU1_STOMACH	75265066	75265184	75265104	75265104	Missense_Mutation	G	A	p.H1378Y
AN3CA_ENDOMETRIUM	75265066	75265184	75265105	75265105	Missense_Mutation	C	A	p.E1377D
SNU182_LIVER	75279555	75279750	75279567	75279567	Missense_Mutation	G	C	p.S889C
CAMA1_BREAST	75279555	75279750	75279666	75279666	Missense_Mutation	C	T	p.R856Q
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	75279555	75279750	75279717	75279717	Missense_Mutation	C	G	p.C839S
OCIAML5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	75279555	75279750	75279717	75279717	Missense_Mutation	C	G	p.C839S
BICR18_UPPER_AERODIGESTIVE_TRACT	75279555	75279750	75279717	75279717	Missense_Mutation	C	G	p.C839S
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	75279555	75279750	75279726	75279726	Missense_Mutation	C	T	p.G836D
BICR18_UPPER_AERODIGESTIVE_TRACT	75279555	75279750	75279726	75279726	Missense_Mutation	C	T	p.G836D
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	75279555	75279750	75279736	75279736	Missense_Mutation	C	T	p.A833T
BICR18_UPPER_AERODIGESTIVE_TRACT	75279555	75279750	75279736	75279736	Missense_Mutation	C	T	p.A833T
CCK81_LARGE_INTESTINE	75280666	75280785	75280768	75280768	Missense_Mutation	C	T	p.E794K
RERFLCSQ1_LUNG	75283341	75283508	75283448	75283448	Missense_Mutation	G	A	p.A752V
OACP4C_OESOPHAGUS	75283341	75283508	75283450	75283450	Missense_Mutation	C	A	p.R751S
NCIH1573_LUNG	75283341	75283508	75283496	75283496	Missense_Mutation	G	A	p.S736F
SNU1040_LARGE_INTESTINE	75286405	75286538	75286438	75286438	Missense_Mutation	T	C	p.M721V
NCIH358_LUNG	75289438	75289669	75289504	75289504	Missense_Mutation	C	T	p.S665N
HEC251_ENDOMETRIUM	75289438	75289669	75289618	75289618	Missense_Mutation	T	G	p.K627T
NCIBL2009_MATCHED_NORMAL_TISSUE	75289438	75289669	75289624	75289624	Missense_Mutation	T	C	p.D625G
NCIH2009_LUNG	75289438	75289669	75289624	75289624	Missense_Mutation	T	C	p.D625G
MFE319_ENDOMETRIUM	75289438	75289669	75289638	75289638	Missense_Mutation	C	A	p.K620N
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	75294358	75294528	75294382	75294382	Missense_Mutation	T	C	p.M431V
BICR18_UPPER_AERODIGESTIVE_TRACT	75294358	75294528	75294382	75294382	Missense_Mutation	T	C	p.M431V
HEC108_ENDOMETRIUM	75294358	75294528	75294427	75294427	Missense_Mutation	A	T	p.S416T
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	75294358	75294528	75294458	75294459	Missense_Mutation	GG	AA	p.S405F
RCC10RGB_KIDNEY	75294358	75294528	75294477	75294477	Missense_Mutation	C	G	p.S399T
CW2_LARGE_INTESTINE	75294358	75294528	75294495	75294495	Missense_Mutation	G	A	p.T393I
MN60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	75294358	75294528	75294521	75294521	Missense_Mutation	C	A	p.E384D
PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	75296027	75296195	75296086	75296086	Missense_Mutation	A	G	p.L362P
DMS53_LUNG	75299202	75299351	75299255	75299255	Missense_Mutation	A	G	p.F308L
NCIH513_PLEURA	75299202	75299351	75299266	75299266	Missense_Mutation	G	C	p.S304C
NCIH513_PLEURA	75299202	75299351	75299272	75299272	Missense_Mutation	T	G	p.H302P
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	75299202	75299351	75299347	75299347	Missense_Mutation	A	T	p.F277Y
LS411N_LARGE_INTESTINE	75335270	75335433	75335332	75335332	Missense_Mutation	G	T	p.P29T
D502MG_CENTRAL_NERVOUS_SYSTEM	75335270	75335433	75335359	75335359	Missense_Mutation	C	T	p.A20T
HO1U1_UPPER_AERODIGESTIVE_TRACT	75335270	75335433	75335363	75335363	Missense_Mutation	C	T	p.M18I
D336MG_CENTRAL_NERVOUS_SYSTEM	75335270	75335433	75335382	75335382	Missense_Mutation	C	T	p.R12H
MCC13_SKIN	75335270	75335433	75335403	75335403	Missense_Mutation	C	T	p.R5K
HCC1569_BREAST	75265066	75265184	75265151	75265151	Nonsense_Mutation	G	C	p.S1362*
KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	75283341	75283508	75283431	75283431	Nonsense_Mutation	G	A	p.R758*
SNGM_ENDOMETRIUM	75294358	75294528	75294358	75294358	Splice_Site	C	A	p.G439*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for USP54

sQTL information located at the skipped exons.

Exon skip ID

Chromosome

Three exons

Skippped exon

ENST

Cancer type

SNP id

Location

DNA change (ref/var)

P-value

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for USP54

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for USP54

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RelatedDrugs for USP54

Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)

Gene

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

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RelatedDiseases for USP54

Diseases associated with this gene.
(DisGeNet 4.0)

Gene

Disease ID

Disease name

# pubmeds

Source

	Gene summary
	Gene structures and expression levels
	Exon skipping events with PSIs in TCGA
	Exon skipping events with PSIs in GTEx
	Open reading frame (ORF) annotation in the exon skipping event
	Exon skipping events in the canonical protein sequence
	SNVs in the skipped exons with depth of coverage
	Splicing Quantitative Trait Loci (sQTLs) in the skipped exons
	Splicing Quantitative Trait Methylation (sQTM) in the skipped exon
	Related drugs with this gene
	Related diseases with this gene

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Gene summary for USP54

Exon skipping events across known transcript of Ensembl for USP54 from UCSC genome browser

Gene isoform structures and expression levels for USP54

Exon skipping events with PSIs in TCGA for USP54

Exon skipping events with PSIs in GTEx for USP54

Open reading frame (ORF) annotation in the exon skipping event for USP54

Infer the effects of exon skipping event on protein functional features for USP54

SNVs in the skipped exons for USP54

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for USP54

Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for USP54

Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for USP54

RelatedDrugs for USP54

RelatedDiseases for USP54